Varaico: Literature-Extracted Genetic Variants

Gene:ARL2BP
Variant:p.H99fs
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ARL2BP

NM_012106.4:p.H99fs

Associated Papers

Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis.

Panneman DM et al.

Frontiers in Cell and Developmental Biology, 2023

36819107 (PubMed )
Supplement: Table2.XLSX › DIVs

Novel homozygous splicing mutations in ARL2BP cause autosomal recessive retinitis pigmentosa.

Fiorentino A et al.

Molecular Vision, 2018

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."